Inherited Metabolic Diseases A Clinical Approach

“The editors … have assembled a talented group of contributors, with impeccable credentials in their areas of specialization. … The writing is succinct and accessible, and a remarkable amount of useful information is contained within 45 compact chapters. … The thoughtful use of tables, figures, and lists provides important details without overwhelming the non-specialist reader. … This book should be close to hand for any clinician who sees patients with inborn metabolic diseases.” (Marc Patterson, Journal of Inherited Metabolic Disease, Vol. 40, 2017)

Georg F. Hoffmann, Dr.med.habil, MD, is Professor and Chairman of the University Childrens Hospital Heidelberg, Head of the Metabolic Center including the Newborn Screening Laboratory as well as Head of the Center for Rare Diseases, Medical Center University of Heidelberg Germany. He has been working in the field of diagnosis and treatment of patients with inherited metabolic diseases for over 30 years with the main emphasis on newborn screening as well as clinical and laboratory research on neurometabolic and intoxication type disorders (neurotransmitter defects, aminoacidopathies, organoacidopathies, and urea cycle disorders).

William L. Nyhan, MD, PhD is Distinguished Professor of Pediatrics and Director of the Biochemical Genetics Laboratory at the University of California San Diego. He is the author of 655 publications, including the Atlas of Inherited Metabolic Diseases and is a Board Member of Lesch-Nyhan Syndrome Children’s Research Foundation, 1995 to present.